Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.

ABSTRACT:

Rationale

Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored.

Objective

We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA.

Methods and results

We conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which w

SUBMITTER: Skoric-Milosavljevic D 

PROVIDER: S-EPMC8768504 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature